List of variants in gene LRP2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)	rs138269726	0.00078
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter)	rs80338752
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)	rs80338744
NM_004525.3(LRP2):c.12437del (p.Gly4146fs)	rs786205122
NM_004525.3(LRP2):c.1341+2T>G	rs80338745
NM_004525.3(LRP2):c.2640-1G>A	rs587776717
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)	rs80338747
NM_004525.3(LRP2):c.8452+1G>A	rs80338748
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs)	rs80338749
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs)	rs80338751

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